Expanding the Clinical Features of Schimke Immuno-Osseous Dysplasia: A New Patient with a Novel Variant and Novel Clinical Findings

Abstract

Sch mke Immuno-Osseous Dysplas a (SIOD) (MIM:242900) s an ultra-rare autosomal recess ve pan-ethn c ple otrop c d sease.Typ cal f nd ngs of th s syndrome are stero d-res stant nephrot c syndrome, cellular mmunodef c ency and spondyloep physeal dysplas a and fac al dysmorph sm.B allel c var ants n the SMARCAL1 gene cause SIOD.The f ve-and-half-year-old female pat ent was evaluated because of short stature, dysmorph sm, hypercalcem a, hypophosphatem a and elevated FSH levels.Karyotype analys s and array-CGH test ng were normal.Cl n cal Exome Sequenc ng was performed v a next-generat on sequenc ng to analyze genes assoc ated w th hypophosphatem a.No pathogen c var ant was detected.The subsequent detect on of prote nur a dur ng her follow-up for cross-fused ectop c left k dney ult mately fac l tated the d agnos s of SIOD, although no obv ous spondyloep physeal dysplas a was detected.Re-analys s of CES revealed a novel homozygous c.2422_2427+9del nsA pathogen c var ant n the SMARCAL1.One hundred twenty-f ve SIOD cases from 38 l terature report ngSMARCAL1 gene pathogen c var ants were rev ewed to nvest gate whether hypercalcem a, hypophosphatem a and elevated FSH levels had been prev ously reported n SIOD pat ents.Th s rev ew revealed that th s was the f rst t me these f nd ngs had been reported n a SIOD pat ent.